NHEJ1 Antibody – Mouse Monoclonal

Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]

NHEJ1: DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary. Interacts with XRCC4 and the XRCC4-LIG4 complex. Binds DNA in a length-dependent manner. Ubiquitously expressed. Belongs to the XLF family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA repair, damage

Chromosomal Location of Human Ortholog: 2q35

Cellular Component: nucleus

Molecular Function: protein binding; DNA binding

Biological Process: central nervous system development; B cell differentiation; response to ionizing radiation; positive regulation of ligase activity; double-strand break repair via nonhomologous end joining; DNA recombination; T cell differentiation

Disease: Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation